G2MC Newsletter

August 2022

In this edition

  • G2MC 6th International Conference: Session Summaries and Takeaways
  • Featured Young Investigator: Dr. Oluwafemi G. Oluwole
  • Featured Flagship Project: Genomic Medicine Clinics for Rare Genetic Disorders
  • G2MC Organizational and Leadership Changes and Updates
  • G2MC Project Updates
  • Other Genomic Medicine News and Events

Know of potential funding sources or opportunities? 

G2MC 7th International Conference

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G2MC International Conference To Be Held in Geneva in 2023

We are excited to share that the Global Genomic Medicine Consortium (G2MC) 7th International Conference will be held in 2023 in Geneva, Switzerland. The conference will take place during the September-October timeframe with exact dates to be announced soon. For those unable to attend in person, we will also be incorporating virtual sessions. The general focus of the conference will be how G2MC can influence and enhance collaborations with governing bodies and other organizations, and in particular, LMICs, to influence genomic medicine implementation worldwide. The theme, along with subthemes will be refined and announced soon.

Our past two conferences were held virtually due to the COVID-19 pandemic, so we are excited for the opportunity to convene in Geneva for this event. We hope you plan to join us in person or virtually for this leading-edge event bringing together world leaders to advance the field of genomic medicine. If you or your organization may be interested in being a conference sponsor, please contact us. Visit our conference webpage for regular updates as we continue conference planning.

Featured Young Investigator

G2MC  is committed to fostering the growth of young investigators in the field of genomic medicine. Through the implementation of Young Investigator Forums at our international conferences and our G2MC Young Investigators Subcommittee, we hope to provide opportunities for our members to mentor and cultivate young talent in genomic medicine implementation all over the world.

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Dr. Pratiksha Gyawali

As part of our Young Investigator Profile Series, we are excited to introduce Dr. Pratiksha Gyawali, MBBS, MD, from Nepal. While serving as a Young Investigator with G2MC, Dr. Gyawali currently works as a consultant biochemist at Dhulikhel Hospital, and as a Lecturer of Clinical Biochemistry at Kathmandu University, School of Medical Sciences, Nepal. Recently, she’s also begun work representing Nepal in the International Federation of Clinical Chemistry (IFCC) Task Force’s Global Newborn Screening Program. Continue reading to learn more about Dr. Gyawali and her research interests and career goals.

Organizational Updates and Announcements

Newest G2MC Steering Committee Members

Join us in welcoming our newest members to the G2MC Steering Committee! We are pleased to grow our leadership team with members who represent diverse backgrounds and geographic locations. Please click on the names below to learn more about each member. 

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  • Personalized Medicine Latin American Association: President, LATAM
  • GenXys Healthcare Systems: Chief Medical Officer, Canada
  • Ixlayer: Clinical Lead, USA
  • Harrisons Healthcare: Precision Medicine Senior Medical Advisor, Canada
  • NIH-NCBI Medical Genetic Summaries: Editorial Board, USA
  • Pharmacogenomics Research Network: Founder Member, USA
  • Clinical Geneticist and Head of Molecular Lab, Civil Service Hospital, Kathmandu, Nepal
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  • Adjunct Professor, Australian Institute of Tropical Health and Medicine, James Cook University, Australia
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  • Head, Genetics & Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
  • Head, Genetic Medicine Unit, University of Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia

Ginsburg To Be Presented With 17th Annual Award for Leadership in Personalized Medicine

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We are pleased to share that Geoffrey S. Ginsburg, M.D., Ph.D., Founder and Co-Chair of G2MC, will be presented with the 17th Annual Award for Leadership in Personalized Medicine during the Personalized Medicine Coalition (PMC) Personalized Medicine and the Patient Summit on November 15, 2022.

Call for Funding Opportunities

The G2MC Development Committee is requesting for G2MC members to share potential funding opportunities, to be posted on the website and highlighted in our newsletters, with the goal of allowing other members the opportunity to consider collaborative proposals to answer them. Please submit ideas using the G2MC Contact form.

G2MC Publications

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

We are pleased to announce that the article “The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review” has been published online in Human Genetics, led and authored by members of the G2MC Evidence Working group. The publication is a result of a systematic evidence review of the clinical utility of genomic medicine that was conducted by our Evidence working group members and other experts beginning in late 2020.

An international genomics health workforce education priorities assessment

We are pleased to announce that the article “An international genomics health workforce education priorities assessment” has been published online in the Journal of Personalized Medicine, led and authored by members of the G2MC Education Working group. The publication is based on an international genomics education needs assessment survey conducted by the group in 2020. Of note, a medical student with the University of Alabama at Birmingham provided significant assistance and is the lead author on the publication.

Working Group and Flagship Project Updates

Visit the G2MC Working Groups and Flagship Projects webpage to learn more about our initiatives and how to get involved. 

G2MC Family Health History (FHH) Flagship Project

FHH Group Members Conduct First Medical Genetics Needs Assessment in Nepal

Pratiksha Gyawali, MBBS, MD, with Kathmandu University School of Medical Sciences, and Shane Quinonez, MD, with the University of Michigan, both members of G2MC’s Family Health History (FHH) group, are leading a project to identify the current capacity of providers to deliver medical genetics services in Nepal. The project, titled “Medical Genetics Need Assessment in Nepal,” will utilize an electronic survey targeting participants including Nepalese physicians, academicians, nurses and laboratory professionals involved in clinical care, laboratory services and research in various specialties. This project is a collaboration between Kathmandu University School of Medical Sciences, Dhulikhel Hospital, and the University of Michigan and is in support of the G2MC mission. Continue reading to learn more.

G2MC Education Working Group

Education Working Group Refines Goals, Elicits Suggestions for Future Projects

In addition to completing a manuscript authored by members of the Education Working Group and recently published in the Journal of Personalized Medicine, the Education Working Group continues to meet regularly to identify how the collective expertise of the group can promote the sharing of genomic medicine educational resources globally, while supporting projects that align with the G2MC mission. Continue reading to learn about the group’s latest initiatives.

Other Genomic Medicine News

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Rare and Unknown Disease Project Website Now Live!

The Rare and Unknown Disease Project is an interdisciplinary 4-year project, funded by the Chilean Agency for Research and Development (ANID). The project, led by Gabriela Repetto, M.D., a member of the G2MC leadership team, is aimed at evaluating the personal, familial, healthcare and societal implications of reaching a diagnosis (or not) via exome sequencing for persons with unknown rare disorders in Chile. Continue reading to learn more. 

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GA4GH Developing New Standard for Representation of Pedigree and Family Health History Information

As part of a multi-year effort engaging stakeholders from national genomic initiatives, clinical programs, and industry partners, the Global Alliance for Genomics and Health (GA4GH) is developing a new standard for the representation of pedigree and family health history information. Planning for publication this year, the GA4GH Pedigree Standard offers an updated data model, intended to fit within the structure of other standards like HL7 FHIR and Phenopackets. Continue reading to learn more.

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WEDI Publishes Fact Sheet on Data Issues in Clinical Genomics

Health IT organization, WEDI, recently published a fact sheet on data issues in clinical genomics. The fact sheet was written by WEDI Genomics Work Group co-chair Grant Wood, who is also part of the G2MC leadership team. The fact sheet summarizes electronic health record (EHR) capabilities when it comes to storing and using genomic data, specifically in clinical practice. Continue reading to learn more and download the fact sheet.

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Using Family Health History (FHH) Apps for Patient Care

An article recently published in Genes outlines a process to assist primary care professionals in choosing FHH digital tools for patient care based on the new ISO/TS 82304-2 Technical Specification (TS), which is a recently developed method to determine eHealth app quality. Grant Wood, G2MC leadership team member, is the lead author on the article titled “FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?” Click below to access the full article.

Join Our Community

Interested in becoming a member of G2MC? Our community is comprised of health professionals, scientists, and policy makers in over 35 countries. We collaborate to demonstrate the value and the effective use of genomics in medicine. Join us to share and learn best practices.